Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs532480170
rs532480170
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients. 21833744

2011
dbSNP: rs532480170
rs532480170
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity. 14695186

2003
dbSNP: rs532480170
rs532480170
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history. 11505391

2001
dbSNP: rs532480170
rs532480170
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

1999
dbSNP: rs532480170
rs532480170
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. 8659541

1996
dbSNP: rs532480170
rs532480170
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR